The first de novo non-mosaic 14q11.2q13.1 tetrasomy of paternal origin

2016 ◽  
Vol 170 (5) ◽  
pp. 1283-1287
Author(s):  
Agnieszka Tomaszewska ◽  
Jakub Behrendt ◽  
Marjan Boter ◽  
Angelika Wawrzkiewicz-Witkowska ◽  
Marnix J. Bos ◽  
...  
Keyword(s):  
De Novo ◽  
Paternal Origin

Identification of de novo deletions at the NF1 gene: no preferential paternal origin and phenotypic analysis of patients

1997 ◽  
Vol 99 (6) ◽  
pp. 720-726 ◽  
Author(s):  
M. Carmen Valero ◽  
Ignacio Pascual-Castroviejo ◽  
E. Velasco ◽  
Felipe Moreno ◽  
Concepción Hernández-Chico
Keyword(s):  
De Novo ◽  
Phenotypic Analysis ◽  
Paternal Origin ◽  
Nf1 Gene

scholarly journals De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome

2017 ◽  
Vol 10 (1) ◽  
Author(s):  
Qin Wang ◽  
Qian Geng ◽  
Qinghua Zhou ◽  
Fuwei Luo ◽  
Peining Li ◽  
...  
Keyword(s):  
De Novo ◽  
Paternal Origin ◽  
Chromosome 11P15.5

De novo interstitial deletion 16(q12. 1q13) of paternal origin in a 10-year-old boy

2008 ◽  
Vol 42 (5) ◽  
pp. 246-250 ◽  
Author(s):  
Simone Schuffenhauer ◽  
David F. Callen ◽  
Heide Seidel ◽  
Yang Shen ◽  
Gabriele Lederer ◽  
...  
Keyword(s):  
De Novo ◽  
Interstitial Deletion ◽  
Paternal Origin

scholarly journals De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin

2009 ◽  
Vol 47 (2) ◽  
pp. 137-141 ◽  
Author(s):  
S. E. Heron ◽  
I. E. Scheffer ◽  
X. Iona ◽  
S. M. Zuberi ◽  
R. Birch ◽  
...  
Keyword(s):  
De Novo ◽  
Dravet Syndrome ◽  
Epileptic Encephalopathies ◽  
Paternal Origin

scholarly journals Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis

1998 ◽  
Vol 11 (S1) ◽  
pp. S99-S102 ◽  
Author(s):  
Teresa Casals ◽  
Maria D. Ramos ◽  
Javier Giménez ◽  
Marga Nadal ◽  
Virginia Nunes ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
De Novo ◽  
Paternal Origin

De novo trisomy 20p of paternal origin

2007 ◽  
Vol 143A (10) ◽  
pp. 1100-1103 ◽  
Author(s):  
Myriam Chaabouni ◽  
Catherine Turleau ◽  
Lotfi Karboul ◽  
Lamia Ben Jemaa ◽  
Faouzi Maazoul ◽  
...  
Keyword(s):  
De Novo ◽  
Paternal Origin

scholarly journals De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder

Cell Reports ◽  
2014 ◽  
Vol 9 (1) ◽  
pp. 16-23 ◽  
Author(s):  
Shan Dong ◽  
Michael F. Walker ◽  
Nicholas J. Carriero ◽  
Michael DiCola ◽  
A. Jeremy Willsey ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
De Novo ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Paternal Origin ◽  
Insertions And Deletions

De novo (15;21) unbalanced translocation of paternal origin in a girl with prader-willi syndrome

1990 ◽  
Vol 37 (1) ◽  
pp. 62-64 ◽  
Author(s):  
C. Cuoco ◽  
M. P. Bicocchi ◽  
D. Granata ◽  
P. Mezzano ◽  
G. Serra
Keyword(s):  
De Novo ◽  
Prader Willi Syndrome ◽  
Unbalanced Translocation ◽  
Paternal Origin
Sign in / Sign up

Export Citation Format

Share Document